# XY gonadal dysgenesis

> gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo

**Wikidata**: [Q957751](https://www.wikidata.org/wiki/Q957751)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/XY_gonadal_dysgenesis)  
**Source**: https://4ort.xyz/entity/xy-gonadal-dysgenesis


## References

1. Disease Ontology
2. State of the art review in gonadal dysgenesis: challenges in diagnosis and management
3. Freebase Data Dumps. 2013
4. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination
5. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
6. The sex-determining region of the human Y chromosome encodes a finger protein.
7. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
8. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy
9. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene
10. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
11. BabelNet
12. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
13. Human Phenotype Ontology release 2018-03-08
14. UMLS 2023
15. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)